ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573084664
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
239700
ClinVar RCV Id:
RCV000232133
RCV001577949
RCV002256149
RCV002487069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Arg521Trp
CA4948802
NM_004260.4:c.1561C>T